neuronopathy, distal hereditary motor, type 7B
Findings
No curated finding names neuronopathy, distal hereditary motor, type 7B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011879), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Slowly progressive
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Distal amyotrophyHPOHP:0003693
- Distal muscle weaknessHPOHP:0002460
- Hand muscle atrophyHPOHP:0009130
- Hand muscle weaknessHPOHP:0030237
- Vocal cord paralysisHPOHP:0001605
- Weakness of facial musculatureHPOHP:0030319
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DCTN1HGNC:2711
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
2 names
Resolves to: neuronopathy, distal hereditary motor, type 7B
- Also called
- DCTN1 neuronopathy, distal hereditary motorneuronopathy, distal hereditary motor caused by mutation in DCTN1